Short Description

Spinal Muscular Atrophy Carrier screening is performed using MLPA methodology. Sample that have to be given is Peripheral blood in EDTA Vacutainer (2ml) for this test. You can expect results in 7-10 days

PreTest Information

Spinal Muscular Atrophy Carrier screening can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Spinal Muscular Atrophy Carrier Screening: Cost, Symptoms, and Diagnosis

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the muscles that control movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and brainstem. SMA is an autosomal recessive genetic disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition.

Carrier screening is a type of genetic testing that can determine if an individual carries a copy of the gene mutation that causes SMA. Knowing if you are a carrier of the SMA gene mutation can help you make informed decisions about family planning and prenatal care.

Cost of SMA Carrier Screening

The cost of SMA carrier screening in India can vary depending on the laboratory and testing method used. At DNA Labs India, SMA carrier screening costs INR 14,000.

Symptoms of SMA

SMA is a progressive disorder that affects muscle strength and movement. Symptoms can vary widely depending on the severity of the condition, but some common signs of SMA include:

• Weakness in the arms and legs
• Difficulty with movement, such as crawling, walking, or sitting up
• Tremors or shaking
• Difficulty swallowing or breathing
• Delayed motor milestones, such as rolling over or sitting up
• Decreased muscle tone

Diagnosis of SMA

Diagnosis of SMA can be made through genetic testing, physical examination, and medical history. Genetic testing is the most reliable way to diagnose SMA and can determine if an individual has inherited the gene mutation that causes the condition.

It is important to note that carrier screening is not the same as diagnostic testing. Carrier screening can only determine if an individual carries a copy of the gene mutation that causes SMA, while diagnostic testing can confirm or rule out a diagnosis of the condition.

Conclusion

SMA carrier screening is a valuable tool for individuals who are planning a family or who have a family history of the condition. Knowing if you are a carrier of the gene mutation that causes SMA can help you make informed decisions about family planning and prenatal care. At DNA Labs India, SMA carrier screening costs INR 14,000. If you are experiencing symptoms of SMA, it is important to speak with a healthcare provider for proper diagnosis and treatment.

For more information on SMA carrier screening or to schedule a test, contact DNA Labs India today.